Canonical Allele Identifier: CA2488883
Gene: LMOD3 HGNC NCBI

Linked Data

dbSNP Id: rs763700666
gnomAD v2: 3-69168539-T-G
gnomAD v3: 3-69119388-T-G
gnomAD v4: 3-69119388-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119388T>G , CM000665.2:g.69119388T>G GRCh38
NC_000003.11:g.69168539T>G , CM000665.1:g.69168539T>G GRCh37
NC_000003.10:g.69251229T>G NCBI36
NG_041828.1:g.8208A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.967A>C MANE Select ENSP00000414670.3:p.Thr323Pro
ENST00000420581.6:c.967A>C ENSP00000414670.2:p.Thr323Pro
ENST00000475434.1:c.967A>C ENSP00000418645.1:p.Thr323Pro
ENST00000489031.5:c.967A>C ENSP00000417210.1:p.Thr323Pro
NM_001304418.1:c.967A>C NP_001291347.1:p.Thr323Pro
NM_198271.4:c.967A>C NP_938012.2:p.Thr323Pro
NM_001304418.3:c.967A>C NP_001291347.1:p.Thr323Pro
NM_198271.5:c.967A>C MANE Select NP_938012.2:p.Thr323Pro